Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations-Reference-Cited by-同舟云学术

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

Published:2014-03 Issue:3 Volume:36 Page:259-263
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Takanashi Jun-ichi,Osaka Hitoshi,Saitsu Hirotomo,Sasaki Masayuki,Mori Harushi,Shibayama Hidehiro,Tanaka Manabu,Nomura Yoshiko,Terao Yasuo,Inoue Ken,Matsumoto Naomichi,James Barkovich A.

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Magnetic resonance imaging pattern recognition in hypomyelinating disorders;Steenweg;Brain,2010

2. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy;Bernard;Am J Hum Genet,2011

3. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy;Saitsu;Am J Hum Genet,2011

4. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy;Tétreault;Am J Hum Genet,2011

5. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia;Timmons;Neurology,2006

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3. Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy;Biomedicines;2022-09-14

4. POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches;Frontiers in Cellular Neuroscience;2021-01-28

5. A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset;BMC Neurology;2020-06-29